Terminal osseous dysplasia is caused by a single recurrent mutation in the FLNA gene. [electronic resource]
- American journal of human genetics Jul 2010
- 146-53 p. digital
Publication Type: Journal Article; Research Support, Non-U.S. Gov't
1537-6605
10.1016/j.ajhg.2010.06.008 doi
Adult Bone Diseases, Developmental--complications Bone Neoplasms--complications Child, Preschool Contractile Proteins--genetics Female Fibroma--complications Filamins Genetic Association Studies Genetic Diseases, X-Linked--genetics Humans Infant Infant, Newborn Male Microfilament Proteins--genetics Mutation Neoplasm Recurrence, Local Pedigree Pigmentation Disorders--complications Skin Pigmentation